D130A_HUMAN
ID D130A_HUMAN Reviewed; 79 AA.
AC P0DP74; Q30KQ2;
DT 05-JUL-2017, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2017, sequence version 1.
DT 03-AUG-2022, entry version 28.
DE RecName: Full=Beta-defensin 130A {ECO:0000305};
DE AltName: Full=Beta-defensin 130 {ECO:0000303|PubMed:16033865};
DE AltName: Full=Beta-defensin 30;
DE Short=DEFB-30;
DE AltName: Full=Defensin, beta 130 {ECO:0000312|HGNC:HGNC:18107};
DE Flags: Precursor;
GN Name=DEFB130A {ECO:0000312|HGNC:HGNC:18107};
GN Synonyms=DEFB130 {ECO:0000312|HGNC:HGNC:18107}, DEFB30;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=16033865; DOI=10.1152/physiolgenomics.00104.2005;
RA Patil A.A., Cai Y., Sang Y., Blecha F., Zhang G.;
RT "Cross-species analysis of the mammalian beta-defensin gene family:
RT presence of syntenic gene clusters and preferential expression in the male
RT reproductive tract.";
RL Physiol. Genomics 23:5-17(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP FUNCTION, AND TISSUE SPECIFICITY.
RX PubMed=28181499; DOI=10.1038/srep41772;
RA Terkawi M.A., Takano R., Furukawa A., Murakoshi F., Kato K.;
RT "Involvement of beta-defensin 130 (DEFB130) in the macrophage microbicidal
RT mechanisms for killing Plasmodium falciparum.";
RL Sci. Rep. 7:41772-41772(2017).
CC -!- FUNCTION: Antimicrobial host-defense peptide. Has an antiplasmodial
CC activity. {ECO:0000269|PubMed:28181499}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed on differentiated macrophage
CC phagocytizing plasmodium falciparum-parasitized erythrocytes.
CC {ECO:0000269|PubMed:28181499}.
CC -!- SIMILARITY: Belongs to the beta-defensin family. {ECO:0000305}.
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DR EMBL; DQ012022; AAY59758.1; -; mRNA.
DR EMBL; AC232308; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS43714.1; -.
DR RefSeq; NP_001032893.1; NM_001037804.1.
DR RefSeq; NP_001182186.1; NM_001195257.1.
DR AlphaFoldDB; P0DP74; -.
DR SMR; P0DP74; -.
DR STRING; 9606.ENSP00000382951; -.
DR BioMuta; DEFB130A; -.
DR PRIDE; P0DP74; -.
DR Antibodypedia; 77986; 2 antibodies from 2 providers.
DR DNASU; 245940; -.
DR Ensembl; ENST00000400079.1; ENSP00000382951.1; ENSG00000232948.1.
DR Ensembl; ENST00000646760.1; ENSP00000495606.1; ENSG00000285249.1.
DR GeneID; 100133267; -.
DR GeneID; 245940; -.
DR KEGG; hsa:100133267; -.
DR KEGG; hsa:245940; -.
DR MANE-Select; ENST00000400079.1; ENSP00000382951.1; NM_001037804.1; NP_001032893.1.
DR MANE-Select; ENST00000437818.1; ENSP00000392568.1; NM_001195257.1; NP_001182186.1.
DR CTD; 100133267; -.
DR CTD; 245940; -.
DR GeneCards; DEFB130A; -.
DR HGNC; HGNC:18107; DEFB130A.
DR HPA; ENSG00000232948; Tissue enriched (epididymis).
DR neXtProt; NX_P0DP74; -.
DR VEuPathDB; HostDB:ENSG00000232948; -.
DR eggNOG; ENOG502TEXC; Eukaryota.
DR GeneTree; ENSGT00940000160995; -.
DR OMA; KCCRIWW; -.
DR OrthoDB; 1548768at2759; -.
DR PathwayCommons; P0DP74; -.
DR Reactome; R-HSA-1461957; Beta defensins.
DR Reactome; R-HSA-1461973; Defensins.
DR Pharos; P0DP74; Tbio.
DR PRO; PR:P0DP74; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; P0DP74; protein.
DR Bgee; ENSG00000232948; Expressed in urinary bladder and 3 other tissues.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0031731; F:CCR6 chemokine receptor binding; IBA:GO_Central.
DR GO; GO:0042056; F:chemoattractant activity; IBA:GO_Central.
DR GO; GO:0061844; P:antimicrobial humoral immune response mediated by antimicrobial peptide; IMP:UniProtKB.
DR GO; GO:0060326; P:cell chemotaxis; IBA:GO_Central.
DR GO; GO:0051838; P:cytolysis by host of symbiont cells; IMP:UniProtKB.
DR GO; GO:0042742; P:defense response to bacterium; IBA:GO_Central.
DR GO; GO:0042832; P:defense response to protozoan; IMP:UniProtKB.
DR InterPro; IPR001855; Defensin_beta-typ.
DR Pfam; PF00711; Defensin_beta; 1.
PE 2: Evidence at transcript level;
KW Antibiotic; Antimicrobial; Defensin; Disulfide bond; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..79
FT /note="Beta-defensin 130A"
FT /id="PRO_0000045369"
FT DISULFID 38..53
FT /evidence="ECO:0000250"
FT DISULFID 43..60
FT /evidence="ECO:0000250"
SQ SEQUENCE 79 AA; 8736 MW; 65DF21FA1C40D507 CRC64;
MKLHSLISVL LLFVTLIPKG KTGVIPGQKQ CIALKGVCRD KLCSTLDDTI GICNEGKKCC
RRWWILEPYP TPVPKGKSP
